UCL Institute of Ophthalmology, University College London, London, UK.
Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Ophthalmic Genet. 2020 Apr;41(2):131-134. doi: 10.1080/13816810.2020.1737950. Epub 2020 Mar 23.
: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family.: Whole exome sequencing (WES) was performed on one affected member in the British family and two affected members in the Czech family.: A novel missense variant c.388C > T; p.(R130C) was identified in the Lens integral membrane protein (LIM2) and found to co-segregate with disease in both families.: Here we report the first autosomal dominant congenital cataract variant p.(R130C) in LIM2, causing a non-syndromic pulverulent and nuclear phenotype in European families.
先天性白内障是世界上最常见的致盲原因。先天性白内障在临床上和遗传学上具有异质性，主要以常染色体显性遗传方式遗传。我们在一个四代英国家庭和一个捷克家庭中确定了孤立性常染色体显性白内障的遗传原因。对英国家庭的一个受影响成员和捷克家庭的两个受影响成员进行了全外显子组测序（WES）。在 Lens integral membrane protein (LIM2) 中发现了一个新的错义变异 c.388C>T;p.(R130C)，并在两个家庭中均与疾病共分离。在这里，我们报道了 LIM2 中首个常染色体显性先天性白内障变异 p.(R130C)，导致欧洲家族出现非综合征性粉状和核型表型。
